Ozderya Aysenur, Temizkan Sule, Aydin Tezcan Kadriye, Ozturk Feyza Yener, Altuntas Yuksel
Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital , 34890, Istanbul , Turkey.
Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital , Istanbul , Turkey.
Endocrinol Diabetes Metab Case Rep. 2015;2015:140119. doi: 10.1530/EDM-14-0119. Epub 2015 Apr 1.
Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.
Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.The exact cause of the disease is unknown.Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease.
马德隆氏病是一种罕见的脂肪代谢紊乱疾病，其特征为良性多发性对称性、包膜性脂肪瘤病。该病的确切病因尚不清楚；可能与慢性酒精中毒和线粒体DNA（A8344G）突变有关，但文献中也报道过无这些因素的病例。一名患有6年糖尿病史的29岁男性因糖尿病控制不佳和性欲减退入住我院。他不饮酒。家族史无异常。体格检查发现他呈类无睾体型。其下颌下、三角肌、颈部、耻骨上和腹股沟区有对称性脂肪过度堆积。他被诊断为马德隆氏病，影像学检查支持该诊断。激素评估显示为高促性腺激素性性腺功能减退。核型分析显示有47,XXY突变。基因研究未发现线粒体DNA突变。马德隆氏病可能伴有代谢紊乱，如糖尿病、高脂血症、高尿酸血症和肝病，内分泌腺疾病，如甲状腺功能减退，以及神经疾病，如多发性神经病和认知障碍。本研究报告了首例伴有克兰费尔特综合征的马德隆氏病病例。
马德隆氏病是一种罕见的脂肪代谢紊乱疾病，其特征为良性多发性对称性和包膜性脂质堆积。该病的确切病因尚不清楚。马德隆氏病可能伴有代谢紊乱，如糖尿病、高脂血症、高尿酸血症和肝病，内分泌腺疾病，如甲状腺功能减退，以及神经疾病，如多发性神经病和认知障碍。
